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A Homozygous PPP1R21 Splice Variant Associated with Severe Developmental Delay, Absence of Speech, and Muscle Weakness Leads to Activated Proteasome Function
PPP1R21 acts as a co-factor for protein phosphatase 1 (PP1), an important serine/threonine phosphatase known to be essential for cell division,...
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Splice Variants of G Protein-Coupled Receptors Expressed in Cancers: Effective Targeting with Monoclonal Antibodies and Antibody-Like Scaffolds As Ligands Irrespective of the Pharmacological Status of Isoforms
G protein-coupled receptors (GPCRs) form a superfamily of approximately 800–1000 receptors, including cell surface receptors that are internalized...
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TREM2 splice isoforms generate soluble TREM2 species that disrupt long-term potentiation
BackgroundTREM2 is a transmembrane receptor expressed by myeloid cells and acts to regulate their immune response. TREM2 governs the response of...
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Splicing factor SRSF1 promotes breast cancer progression via oncogenic splice switching of PTPMT1
BackgroundIntensive evidence has highlighted the effect of aberrant alternative splicing (AS) events on cancer progression when triggered by...
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SF3B3-regulated mTOR alternative splicing promotes colorectal cancer progression and metastasis
BackgroundAberrant alternative splicing (AS) is a pervasive event during colorectal cancer (CRC) development. SF3B3 is a splicing factor component of...
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Dysregulation of alternative splicing contributes to multiple myeloma pathogenesis
BackgroundDysregulation of alternative splicing (AS) triggers many tumours, understanding the roles of splicing events during tumorigenesis would...
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Long-read sequencing reveals the landscape of aberrant alternative splicing and novel therapeutic target in colorectal cancer
BackgroundAlternative splicing complexity plays a vital role in carcinogenesis and cancer progression. Improved understanding of novel splicing...
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Comprehensive analysis of alternative splicing across multiple transcriptomic cohorts reveals prognostic signatures in prostate cancer
BackgroundAlternative splicing (AS) plays a crucial role in transcriptomic diversity and is a hallmark of cancer that profoundly influences the...
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A Novel AICDA Splice-Site Mutation in Two Siblings with HIGM2 Permits Somatic Hypermutation but Abrogates Mutational Targeting
Hyper-IgM syndrome type 2 (HIGM2) is a B cell intrinsic primary immunodeficiency caused by mutations in AICDA encoding activation-induced cytidine...
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Characterization of alternative splicing events and prognostic signatures in gastric cancer
BackgroundAccumulating evidences indicate that the specific alternative splicing (AS) events are linked to the occurrence and prognosis of gastric...
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Novel Isoforms of Adhesion G Protein-Coupled Receptor B1 (ADGRB1/BAI1) Generated from an Alternative Promoter in Intron 17
Brain-specific angiogenesis inhibitor 1 (BAI1) belongs to the adhesion G-protein-coupled receptors, which exhibit large multi-domain extracellular N...
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Genome-wide identification and functional analysis of dysregulated alternative splicing profiles in sepsis
BackgroundAn increasing body of evidence now shows that the long-term mortality of patients with sepsis are associated with various sepsis-related...
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Energy stress-induced circZFR enhances oxidative phosphorylation in lung adenocarcinoma via regulating alternative splicing
BackgroundCircular RNAs (circRNAs) contribute to multiple biological functions and are also involved in pathological conditions such as cancer....
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Genome-wide analysis revealed the dysregulation of RNA binding protein-correlated alternative splicing events in myocardial ischemia reperfusion injury
BackgroundMyocardial ischemia reperfusion injury (MIRI), the tissue damage which is caused by the returning of blood supply to tissue after a period...
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LncRNA CCAT2 promotes malignant progression of metastatic gastric cancer through regulating CD44 alternative splicing
ObjectiveGastric cancer (GC) is one of the most malignant tumors worldwide. Thus, it is necessary to explore the underlying mechanisms of GC...
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Methods for Characterization of Alternative RNA Splicing
Quantification of alternative splicing to detect the abundance of differentially spliced isoforms of a gene in total RNA can be accomplished via...
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Breast metastatic tumors in lung can be substituted by lung-derived malignant cells transformed by alternative splicing H19 lncRNA
Metastasis accounts for most cancer-associated deaths; yet, this complex process remains poorly understood, particularly the relationship between...
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CASA: a comprehensive database resource for the COVID-19 Alternative Splicing Atlas
BackgroundAs a key process in transcriptional regulatory mechanisms, alternative splicing (AS) plays a crucial role in maintaining the diversity of...
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cFLIPS regulates alternative NLRP3 inflammasome activation in human monocytes
The innate immune responses, including inflammasome activation, are paramount for host defense against pathogen infection. In contrast to canonical...
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In-depth analysis of alternative splicing landscape in multiple myeloma and potential role of dysregulated splicing factors
Splicing changes are common in cancer and are associated with dysregulated splicing factors. Here, we analyzed RNA-seq data from 323 newly diagnosed...
